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Association of six polymorphisms of the NOTCH4 gene with schizophrenia in the Japanese population
Author(s) -
Tochigi Mamoru,
Zhang Xuan,
Umekage Tadashi,
Ohashi Jun,
Kato Chieko,
Marui Tetsuya,
Otowa Takeshi,
Hibino Hiroyuki,
Otani Toshiyuki,
Kohda Kazuhisa,
Liu Shuzheng,
Kato Nobumasa,
Tokunaga Katsushi,
Sasaki Tsukasa
Publication year - 2004
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30010
Subject(s) - single nucleotide polymorphism , genetics , haplotype , schizophrenia (object oriented programming) , allele , biology , genotype , psychosis , allele frequency , population , genetic association , genotype frequency , gene , medicine , psychiatry , environmental health
The NOTCH4 gene is located at 6p21.3 and involved in the development and patterning of the central nervous systems. Recently, Wei and Hemmings [2000] observed that the gene was associated with schizophrenia. Subsequent to the report, several studies investigated the gene in schizophrenia, with controversial and inconclusive results. In the present study, we investigated six polymorphisms (SNPs 1–5 and a CTG repeat) of the gene in Japanese subjects with schizophrenia (n = 284) and the same number of controls. The polymorphisms include SNP5, which has been observed to be associated with schizophrenia in a Chinese population and two new SNPs 3–4 adjacent to SNP5, in addition to the SNPs 1–2 and the CTG repeat, which were suggested for the association with the disease in the previous study. As a result, no significant difference in genotypic distributions or allelic frequencies of the six polymorphisms of the gene was observed between the patients and the controls. Also, no significant difference was found in frequencies of haplotypes of the six polymorphisms between the patients and the controls. However, the distribution of SNP2 was significantly deviated from Hardy–Weinberg equilibrium in the patients ( P = 0.000986), not in the controls, which could be a chance or due to an association of SNP2 with the disease. In conclusion, the present study provided no clear evidence for an association between the NOTCH4 gene and schizophrenia in the Japanese population. © 2004 Wiley‐Liss, Inc.